CCD68_HUMAN
ID CCD68_HUMAN Reviewed; 335 AA.
AC Q9H2F9; B2R9I3;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Coiled-coil domain-containing protein 68;
DE AltName: Full=Cutaneous T-cell lymphoma-associated antigen se57-1;
DE Short=CTCL-associated antigen se57-1;
GN Name=CCDC68;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=11149944; DOI=10.1073/pnas.98.2.629;
RA Eichmueller S., Usener D., Dummer R., Stein A., Thiel D., Schadendorf D.;
RT "Serological detection of cutaneous T-cell lymphoma-associated antigens.";
RL Proc. Natl. Acad. Sci. U.S.A. 98:629-634(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-249.
RC TISSUE=Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=15142679; DOI=10.1016/j.canlet.2003.11.021;
RA Gerhardt A., Usener D., Keese M., Sturm J., Schadendorf D., Eichmueller S.;
RT "Tissue expression and sero-reactivity of tumor-specific antigens in
RT colorectal cancer.";
RL Cancer Lett. 208:197-206(2004).
RN [5]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH CEP170.
RX PubMed=28422092; DOI=10.1038/ncomms15057;
RA Huang N., Xia Y., Zhang D., Wang S., Bao Y., He R., Teng J., Chen J.;
RT "Hierarchical assembly of centriole subdistal appendages via centrosome
RT binding proteins CCDC120 and CCDC68.";
RL Nat. Commun. 8:15057-15057(2017).
CC -!- FUNCTION: Centriolar protein required for centriole subdistal appendage
CC assembly and microtubule anchoring in interphase cells
CC (PubMed:28422092). Together with CCDC120, cooperate with subdistal
CC appendage components ODF2, NIN and CEP170 for hierarchical subdistal
CC appendage assembly (PubMed:28422092). {ECO:0000269|PubMed:28422092}.
CC -!- SUBUNIT: Interacts with CEP170 (PubMed:28422092).
CC -!- INTERACTION:
CC Q9H2F9; Q5SW79: CEP170; NbExp=6; IntAct=EBI-2813327, EBI-1104799;
CC Q9H2F9; P63172: DYNLT1; NbExp=3; IntAct=EBI-2813327, EBI-1176455;
CC Q9H2F9; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-2813327, EBI-3044087;
CC Q9H2F9; Q9UBB9: TFIP11; NbExp=8; IntAct=EBI-2813327, EBI-1105213;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome, centriole {ECO:0000269|PubMed:28422092}.
CC Note=Localizes to the subdistal appendages of centrioles
CC (PubMed:28422092). {ECO:0000269|PubMed:28422092}.
CC -!- TISSUE SPECIFICITY: Expressed in bone marrow, colon, small intestine,
CC spleen, testis, trachea and cutaneous T-cell lymphoma (CTCL).
CC {ECO:0000269|PubMed:11149944, ECO:0000269|PubMed:15142679}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF273051; AAG34911.1; -; mRNA.
DR EMBL; AK313793; BAG36530.1; -; mRNA.
DR EMBL; BC029508; AAH29508.1; -; mRNA.
DR CCDS; CCDS11959.1; -.
DR RefSeq; NP_001137301.1; NM_001143829.1.
DR RefSeq; NP_079490.1; NM_025214.2.
DR RefSeq; XP_006722615.1; XM_006722552.3.
DR RefSeq; XP_011524500.1; XM_011526198.2.
DR RefSeq; XP_011524501.1; XM_011526199.2.
DR RefSeq; XP_011524502.1; XM_011526200.2.
DR RefSeq; XP_011524503.1; XM_011526201.2.
DR AlphaFoldDB; Q9H2F9; -.
DR SMR; Q9H2F9; -.
DR BioGRID; 123235; 24.
DR IntAct; Q9H2F9; 24.
DR STRING; 9606.ENSP00000466690; -.
DR iPTMnet; Q9H2F9; -.
DR PhosphoSitePlus; Q9H2F9; -.
DR BioMuta; CCDC68; -.
DR DMDM; 74733556; -.
DR MassIVE; Q9H2F9; -.
DR PaxDb; Q9H2F9; -.
DR PeptideAtlas; Q9H2F9; -.
DR PRIDE; Q9H2F9; -.
DR ProteomicsDB; 80543; -.
DR Antibodypedia; 53345; 95 antibodies from 21 providers.
DR DNASU; 80323; -.
DR Ensembl; ENST00000337363.8; ENSP00000337209.3; ENSG00000166510.14.
DR Ensembl; ENST00000432185.5; ENSP00000413406.1; ENSG00000166510.14.
DR Ensembl; ENST00000591504.6; ENSP00000466690.1; ENSG00000166510.14.
DR GeneID; 80323; -.
DR KEGG; hsa:80323; -.
DR MANE-Select; ENST00000591504.6; ENSP00000466690.1; NM_025214.3; NP_079490.1.
DR UCSC; uc002lfs.4; human.
DR CTD; 80323; -.
DR DisGeNET; 80323; -.
DR GeneCards; CCDC68; -.
DR HGNC; HGNC:24350; CCDC68.
DR HPA; ENSG00000166510; Tissue enhanced (intestine, placenta).
DR MIM; 616909; gene.
DR neXtProt; NX_Q9H2F9; -.
DR OpenTargets; ENSG00000166510; -.
DR PharmGKB; PA143485420; -.
DR VEuPathDB; HostDB:ENSG00000166510; -.
DR eggNOG; ENOG502RXID; Eukaryota.
DR GeneTree; ENSGT00950000183065; -.
DR HOGENOM; CLU_071853_0_0_1; -.
DR InParanoid; Q9H2F9; -.
DR OMA; LRMEISV; -.
DR OrthoDB; 1010722at2759; -.
DR PhylomeDB; Q9H2F9; -.
DR PathwayCommons; Q9H2F9; -.
DR SignaLink; Q9H2F9; -.
DR BioGRID-ORCS; 80323; 6 hits in 1072 CRISPR screens.
DR ChiTaRS; CCDC68; human.
DR GenomeRNAi; 80323; -.
DR Pharos; Q9H2F9; Tbio.
DR PRO; PR:Q9H2F9; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q9H2F9; protein.
DR Bgee; ENSG00000166510; Expressed in rectum and 131 other tissues.
DR ExpressionAtlas; Q9H2F9; baseline and differential.
DR Genevisible; Q9H2F9; HS.
DR GO; GO:0120103; C:centriolar subdistal appendage; IDA:GO_Central.
DR GO; GO:0005814; C:centriole; IDA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0035556; P:intracellular signal transduction; IBA:GO_Central.
DR GO; GO:0034454; P:microtubule anchoring at centrosome; IMP:GO_Central.
DR GO; GO:0008104; P:protein localization; IMP:GO_Central.
DR InterPro; IPR026735; Ccdc68.
DR PANTHER; PTHR23171:SF3; PTHR23171:SF3; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Cytoplasm; Cytoskeleton; Reference proteome.
FT CHAIN 1..335
FT /note="Coiled-coil domain-containing protein 68"
FT /id="PRO_0000264611"
FT COILED 101..305
FT /evidence="ECO:0000255"
FT VARIANT 249
FT /note="V -> A (in dbSNP:rs34751112)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_050762"
SQ SEQUENCE 335 AA; 38869 MW; 2D7C0DFAC964A815 CRC64;
MTTVTVTTEI PPRDKMEDNS ALYESTSAHI IEETEYVKKI RTTLQKIRTQ MFKDEIRHDS
TNHKLDAKHC GNLQQGSDSE MDPSCCSLDL LMKKIKGKDL QLLEMNKENE VLKIKLQASR
EAGAAALRNV AQRLFENYQT QSEEVRKKQE DSKQLLQVNK LEKEQKLKQH VENLNQVAEK
LEEKHSQITE LENLVQRMEK EKRTLLERKL SLENKLLQLK SSATYGKSCQ DLQREISILQ
EQISHLQFVI HSQHQNLRSV IQEMEGLKNN LKEQDKRIEN LREKVNILEA QNKELKTQVA
LSSETPRTKV SKAVSTSELK TEGVSPYLML IRLRK
